Mutagenetix > Incidental Mutation

Incidental Mutation 'R0271:Mrpl37'

35291

Institutional Source

Beutler Lab

Gene Symbol

Mrpl37

Ensembl Gene

ENSMUSG00000028622

Gene Name

mitochondrial ribosomal protein L37

Synonyms

2300004O14Rik, Rpml2, MRP-L2

MMRRC Submission

038497-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.947) question?

Stock #

R0271 (G1)

Quality Score

188

Status

Validated

Chromosome

Chromosomal Location

106913071-106924063 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 106923658 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 112 (R112L)

Ref Sequence

ENSEMBL: ENSMUSP00000030365 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030364] [ENSMUST00000030365] [ENSMUST00000106756] [ENSMUST00000106758] [ENSMUST00000106760] [ENSMUST00000154283] [ENSMUST00000149453] [ENSMUST00000137269] [ENSMUST00000145324]

AlphaFold

Q921S7

Predicted Effect

probably benign
Transcript: ENSMUST00000030364

SMART Domains

Protein: ENSMUSP00000030364
Gene: ENSMUSG00000028621

Domain	Start	End	E-Value	Type
low complexity region	3	11	N/A	INTRINSIC
Pfam:Oxidored-like	15	56	1e-10	PFAM
Pfam:FAD_binding_6	80	156	2.3e-11	PFAM
Pfam:NAD_binding_1	152	266	1.8e-8	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030365
AA Change: R112L

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000030365
Gene: ENSMUSG00000028622
AA Change: R112L

Domain	Start	End	E-Value	Type
low complexity region	2	22	N/A	INTRINSIC
Pfam:PDCD9	292	420	6.4e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106756

SMART Domains

Protein: ENSMUSP00000102367
Gene: ENSMUSG00000028621

Domain	Start	End	E-Value	Type
Pfam:FAD_binding_6	20	117	4.7e-23	PFAM
Pfam:NAD_binding_1	127	241	3.2e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106758

SMART Domains

Protein: ENSMUSP00000102369
Gene: ENSMUSG00000028621

Domain	Start	End	E-Value	Type
Pfam:Oxidored-like	10	55	1.7e-15	PFAM
Pfam:FAD_binding_6	80	177	8.2e-25	PFAM
Pfam:NAD_binding_1	187	301	8.8e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106760

SMART Domains

Protein: ENSMUSP00000102371
Gene: ENSMUSG00000028621

Domain	Start	End	E-Value	Type
low complexity region	3	11	N/A	INTRINSIC
Pfam:Oxidored-like	15	56	2.5e-14	PFAM
Pfam:FAD_binding_6	80	156	3.1e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125157

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125397

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138788

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156406

Predicted Effect

probably benign
Transcript: ENSMUST00000154283

SMART Domains

Protein: ENSMUSP00000119366
Gene: ENSMUSG00000028621

Domain	Start	End	E-Value	Type
low complexity region	3	11	N/A	INTRINSIC
Pfam:Oxidored-like	14	56	4.5e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000149453

SMART Domains

Protein: ENSMUSP00000121581
Gene: ENSMUSG00000028621

Domain	Start	End	E-Value	Type
low complexity region	3	11	N/A	INTRINSIC
Pfam:Oxidored-like	14	56	5e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000137269

SMART Domains

Protein: ENSMUSP00000119249
Gene: ENSMUSG00000028621

Domain	Start	End	E-Value	Type
Pfam:FAD_binding_6	13	110	7.3e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145324

SMART Domains

Protein: ENSMUSP00000122502
Gene: ENSMUSG00000028621

Domain	Start	End	E-Value	Type
low complexity region	3	11	N/A	INTRINSIC
Pfam:Oxidored-like	14	56	3.9e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000126207

SMART Domains

Protein: ENSMUSP00000116114
Gene: ENSMUSG00000028621

Domain	Start	End	E-Value	Type
Pfam:Oxidored-like	4	49	1.3e-16	PFAM

Meta Mutation Damage Score

0.3156

Coding Region Coverage

1x: 98.5%
3x: 97.4%
10x: 95.2%
20x: 90.6%

Validation Efficiency

100% (65/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930544D05Rik	A	G	11: 70,507,474 (GRCm39)	Q173R	possibly damaging	Het
Ampd2	C	T	3: 107,994,032 (GRCm39)		probably benign	Het
Ankrd17	T	C	5: 90,402,658 (GRCm39)	S1467G	possibly damaging	Het
Arhgap31	T	G	16: 38,422,872 (GRCm39)	S1065R	possibly damaging	Het
Arhgef19	G	T	4: 140,977,918 (GRCm39)	M542I	probably benign	Het
C7	T	C	15: 5,044,862 (GRCm39)	D392G	possibly damaging	Het
Ccdc138	G	A	10: 58,411,645 (GRCm39)	C671Y	probably damaging	Het
Cdh8	A	G	8: 99,838,347 (GRCm39)	S498P	possibly damaging	Het
Cpb2	T	A	14: 75,495,149 (GRCm39)		probably null	Het
Cwc22	A	C	2: 77,751,202 (GRCm39)	N389K	probably benign	Het
Dgkb	T	A	12: 38,278,025 (GRCm39)	L550Q	probably damaging	Het
Dip2c	A	G	13: 9,665,811 (GRCm39)	R950G	probably damaging	Het
Eml6	A	G	11: 29,798,949 (GRCm39)	V437A	possibly damaging	Het
Fanca	T	C	8: 123,999,180 (GRCm39)		probably benign	Het
Fgd2	C	G	17: 29,585,982 (GRCm39)	L189V	possibly damaging	Het
Foxred2	A	C	15: 77,827,590 (GRCm39)	S590A	possibly damaging	Het
Gm1110	A	G	9: 26,831,962 (GRCm39)	F63S	probably damaging	Het
Gm14496	A	T	2: 181,637,747 (GRCm39)	M274L	probably benign	Het
Gm7008	T	A	12: 40,273,559 (GRCm39)		probably benign	Het
Gm9922	T	A	14: 101,966,989 (GRCm39)		probably benign	Het
Gtf3c3	A	T	1: 54,467,971 (GRCm39)	M222K	possibly damaging	Het
Hspa1b	A	G	17: 35,177,808 (GRCm39)	V59A	probably benign	Het
Impg1	T	C	9: 80,294,161 (GRCm39)		probably benign	Het
Khdc4	T	C	3: 88,593,636 (GRCm39)		probably benign	Het
Lpcat4	T	A	2: 112,073,590 (GRCm39)		probably null	Het
Mipol1	T	C	12: 57,507,740 (GRCm39)		probably benign	Het
Myo18b	T	C	5: 112,957,551 (GRCm39)	N1471D	possibly damaging	Het
Nes	G	A	3: 87,885,949 (GRCm39)	E1359K	possibly damaging	Het
Nipbl	A	T	15: 8,391,221 (GRCm39)	V251E	possibly damaging	Het
Nlrp1b	T	C	11: 71,052,591 (GRCm39)	I946V	possibly damaging	Het
Obscn	T	G	11: 58,947,568 (GRCm39)		probably benign	Het
Or10q1b	A	T	19: 13,682,499 (GRCm39)	T103S	probably benign	Het
Or4a2	T	A	2: 89,248,502 (GRCm39)	Y85F	probably benign	Het
Or51q1	T	A	7: 103,628,837 (GRCm39)	I146K	possibly damaging	Het
Or5m12	A	T	2: 85,734,633 (GRCm39)	M255K	possibly damaging	Het
Pck2	T	C	14: 55,782,041 (GRCm39)		probably null	Het
Pcsk9	A	G	4: 106,306,246 (GRCm39)		probably benign	Het
Phyhd1	A	T	2: 30,159,834 (GRCm39)	Q56L	probably benign	Het
Plxnc1	C	T	10: 94,673,780 (GRCm39)	G1001S	probably null	Het
Prss52	T	C	14: 64,351,127 (GRCm39)	V304A	probably benign	Het
Prss55	C	T	14: 64,313,056 (GRCm39)	G276D	probably benign	Het
Pzp	A	T	6: 128,496,477 (GRCm39)	Y252N	probably damaging	Het
Rad1	T	C	15: 10,490,543 (GRCm39)		probably null	Het
Ripply3	A	T	16: 94,136,616 (GRCm39)	E92D	possibly damaging	Het
Rpp30	T	A	19: 36,081,803 (GRCm39)	D255E	probably benign	Het
Rsad1	T	C	11: 94,439,290 (GRCm39)		probably benign	Het
Serpini2	A	G	3: 75,153,885 (GRCm39)	M358T	probably damaging	Het
Slc35a1	T	A	4: 34,664,125 (GRCm39)	E331V	probably benign	Het
Slc38a7	A	G	8: 96,572,506 (GRCm39)	F179L	probably damaging	Het
Stmn4	C	T	14: 66,593,732 (GRCm39)	Q42*	probably null	Het
Sytl2	T	C	7: 90,052,228 (GRCm39)		probably benign	Het
Tab2	G	A	10: 7,794,922 (GRCm39)	A520V	probably benign	Het
Tcp10a	A	G	17: 7,598,555 (GRCm39)	I162M	probably benign	Het
Tmprss13	A	G	9: 45,244,986 (GRCm39)		probably benign	Het
Tnfrsf14	A	G	4: 155,011,054 (GRCm39)		probably null	Het
Tpx2	A	G	2: 152,709,287 (GRCm39)		probably benign	Het
Vmn2r105	T	A	17: 20,454,965 (GRCm39)	N57I	probably damaging	Het
Wars1	C	T	12: 108,841,119 (GRCm39)	V220I	probably benign	Het
Washc1	T	A	17: 66,423,714 (GRCm39)	D212E	possibly damaging	Het
Wdr17	C	T	8: 55,146,131 (GRCm39)	A90T	possibly damaging	Het
Wdr43	A	G	17: 71,933,820 (GRCm39)	D139G	probably benign	Het
Zfp235	A	T	7: 23,836,556 (GRCm39)	H34L	possibly damaging	Het
Zkscan16	G	A	4: 58,952,391 (GRCm39)	V230I	probably benign	Het

Other mutations in Mrpl37

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02292:Mrpl37	APN	4	106,917,729 (GRCm39)	missense	probably damaging	0.96
IGL02451:Mrpl37	APN	4	106,923,839 (GRCm39)	missense	probably damaging	1.00
R0088:Mrpl37	UTSW	4	106,921,621 (GRCm39)	missense	possibly damaging	0.65
R1445:Mrpl37	UTSW	4	106,921,692 (GRCm39)	missense	probably benign	0.00
R2566:Mrpl37	UTSW	4	106,921,690 (GRCm39)	missense	possibly damaging	0.95
R4751:Mrpl37	UTSW	4	106,914,672 (GRCm39)	missense	probably damaging	1.00
R5088:Mrpl37	UTSW	4	106,921,919 (GRCm39)	missense	probably damaging	1.00
R5664:Mrpl37	UTSW	4	106,921,588 (GRCm39)	missense	probably benign	0.06
R5870:Mrpl37	UTSW	4	106,923,919 (GRCm39)	missense	probably benign
R5996:Mrpl37	UTSW	4	106,923,704 (GRCm39)	missense	probably benign
R6163:Mrpl37	UTSW	4	106,921,793 (GRCm39)	missense	possibly damaging	0.94
R7287:Mrpl37	UTSW	4	106,917,717 (GRCm39)	missense	probably damaging	1.00
R8754:Mrpl37	UTSW	4	106,921,611 (GRCm39)	missense	probably benign	0.28
R9334:Mrpl37	UTSW	4	106,921,605 (GRCm39)	missense	probably benign	0.13
X0067:Mrpl37	UTSW	4	106,923,676 (GRCm39)	missense	possibly damaging	0.93
Z1176:Mrpl37	UTSW	4	106,914,623 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCCCAGAAAAGGAGCGTTGTAGAC -3'
(R):5'- CATTACCTACGAGGGCAAGAAGCAC -3'

Sequencing Primer
(F):5'- AGCGTTGTAGACCTGCTTTATTATC -3'
(R):5'- AAGAAGCACTTCGTCCCGTG -3'

Posted On

2013-05-09